Canonical Allele Identifier: CA8537060

Gene: GSDMA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39974377C>T , CM000679.2:g.39974377C>T	GRCh38
NC_000017.10:g.38130630C>T , CM000679.1:g.38130630C>T	GRCh37
NC_000017.9:g.35384156C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178171.5:c.856C>T MANE Select	NP_835465.2:p.Leu286Phe
ENST00000301659.9:c.856C>T MANE Select	ENSP00000301659.4:p.Leu286Phe
NM_178171.4:c.856C>T	NP_835465.2:p.Leu286Phe
ENST00000301659.8:c.856C>T	ENSP00000301659.4:p.Leu286Phe
ENST00000635792.1:c.856C>T	ENSP00000490739.1:p.Leu286Phe
XM_006721832.2:c.856C>T	XP_006721895.1:p.Leu286Phe
XM_006721832.3:c.856C>T	XP_006721895.1:p.Leu286Phe
XM_011524651.1:c.430C>T	XP_011522953.1:p.Leu144Phe
XM_011524651.3:c.430C>T	XP_011522953.1:p.Leu144Phe
XM_017024502.2:c.829C>T	XP_016879991.1:p.Leu277Phe
XM_017024503.1:c.752-523C>T	XP_016879992.1:n.752-523C>T
XM_017024504.2:c.725-523C>T	XP_016879993.1:n.725-523C>T